ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

To read the full abstract: N Engl J Med. 2019 Jul 4;381(1):25–35.In brief: Inhibition of endochondral ossification in Achondroplasia leads to disproportionate short stature. In this phase 2 study, daily subcutaneous injection of vosoritide, a biologic analogue of C-type natriuretic peptide and a potent stimulator of endochondral ossification, results in sustained increase in t...

To read the full abstract: Nature 2020;579:111–117.In brief: In large fracture calluses, skeletal progenitors activate the chondrogenesis program, whereas in smaller calluses, direct osteogenesis is the preferred path. Here, the authors show that lipid availability determines whether skeletal stem cells repair a fracture through endochondral bone formation or direct ossificati...

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3172–3180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

To read the full abstract: J Cancer Res Clin Oncol. 2020 Jun;146(6):1451–1462. marloes.vandijk@amsterdamumc.nlChemo- and radiotherapy administered during childhood may compromise female reproductive function leading to premature depletion of the ovarian follicle pool. Childhood cancer survivors (CCS) women who pursue pregnancy may experience a lengthening of the time required to become pr...

To read the full abstract: JAMA. 2019;322(6):514–523. doi: 10.1001/jama.2019.10329Some children have a high genetic risk to develop type 1 diabetes (T1DM) and/or celiac disease. However, environmental factors may modify such risks. One arm of the TEDDY study assessed the influence of high gluten intakes on the development of celiac disease in genetically high risk children.<p clas...

To read the full abstract: Cell Metab. 2020 Jun 2;31(6):1120-1135.e7. doi: 10.1016/j.cmet.2020.04.013.This experimental rodent study of a PEGylated amphetamine (PEGyAMPH) designed to not cross the blood brain barrier is interesting for 2 reasons. First, it shows that its peripheral anti-obesity effects alone (without the central anorexic effects of amphetamine) are sufficient to achieve...

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...